Canonical Allele Identifier: CA371914703
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1191253387
gnomAD v2: 8-119122344-T-G
gnomAD v3: 8-118110105-T-G
gnomAD v4: 8-118110105-T-G
MyVariant Identifiers: chr8:g.119122344T>G (hg19) chr8:g.118110105T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110105T>G , CM000670.2:g.118110105T>G GRCh38
NC_000008.10:g.119122344T>G , CM000670.1:g.119122344T>G GRCh37
NC_000008.9:g.119191525T>G NCBI36
NG_007455.2:g.6715A>C , LRG_493:g.6715A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.942A>C MANE Select ENSP00000367446.3:p.Arg314Ser
ENST00000436216.2:c.310A>C
ENST00000378204.6:c.942A>C ENSP00000367446.2:p.Arg314Ser
ENST00000436216.1:c.310A>C
ENST00000437196.1:c.73+869A>C ENSP00000407299.1:n.73+869A>C
NM_000127.2:c.942A>C , LRG_493t1:c.942A>C NP_000118.2:p.Arg314Ser
NM_000127.3:c.942A>C MANE Select NP_000118.2:p.Arg314Ser
Search 100 bp 5'
Search 100 bp 3'